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NM_002078.5(GOLGA4):c.1492A>G (p.Lys498Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004395648.1

Allele description [Variation Report for NM_002078.5(GOLGA4):c.1492A>G (p.Lys498Glu)]

NM_002078.5(GOLGA4):c.1492A>G (p.Lys498Glu)

Gene:
GOLGA4:golgin A4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_002078.5(GOLGA4):c.1492A>G (p.Lys498Glu)
HGVS:
  • NC_000003.12:g.37319141A>G
  • NG_047053.1:g.80951A>G
  • NM_001172713.3:c.1558A>G
  • NM_001410721.2:c.1558A>G
  • NM_001429190.1:c.1609A>G
  • NM_001429191.1:c.1558A>G
  • NM_001429193.1:c.1444A>G
  • NM_001429196.1:c.1510A>G
  • NM_001429198.1:c.1510A>G
  • NM_001429201.1:c.1492A>G
  • NM_001429202.1:c.1453A>G
  • NM_002078.5:c.1492A>GMANE SELECT
  • NP_001166184.1:p.Lys520Glu
  • NP_001166184.1:p.Lys520Glu
  • NP_001397650.1:p.Lys520Glu
  • NP_001397650.1:p.Lys520Glu
  • NP_001416119.1:p.Lys537Glu
  • NP_001416120.1:p.Lys520Glu
  • NP_001416122.1:p.Lys482Glu
  • NP_001416125.1:p.Lys504Glu
  • NP_001416127.1:p.Lys504Glu
  • NP_001416130.1:p.Lys498Glu
  • NP_001416131.1:p.Lys485Glu
  • NP_002069.2:p.Lys498Glu
  • NC_000003.11:g.37360632A>G
  • NM_001172713.1:c.1558A>G
  • NM_001172713.2:c.1558A>G
  • NM_001410721.1:c.1558A>G
Protein change:
K482E
Molecular consequence:
  • NM_001172713.3:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410721.2:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429190.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429191.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429193.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429196.1:c.1510A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429198.1:c.1510A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429201.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429202.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002078.5:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004877359Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 2, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004877359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1558A>G (p.K520E) alteration is located in exon 13 (coding exon 13) of the GOLGA4 gene. This alteration results from a A to G substitution at nucleotide position 1558, causing the lysine (K) at amino acid position 520 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024